The Second Case of Saposin A Deficiency and Altered Autophagy

Krabbe disease is a lysosomal storage disease caused by galactosylceramidase deficiency, resulting in neurodegeneration with a rapid clinical downhill course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JIMD Rep
Egile Nagusiak: Kose, Melis, Demir, Secil Akyildiz, Akinci, Gulcin, Eraslan, Cenk, Yilmaz, Unsal, Ceylaner, Serdar, Yildirim, Eser Sozmen, Seyrantepe, Volkan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2018
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323030/
https://ncbi.nlm.nih.gov/pubmed/29995202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_114
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak